Monday, December 11, 2017

Huntington’s breakthrough

I have mentioned in earlier articles that Huntington’s Disease share a common genetic defect. It was first reported several years ago a PubMed article links acommonality between HD, KD and SCA-1.

“…Three neurodegenerative diseases, Huntington's disease (HD), Kennedy's disease (hereditary spinobulbar muscular atrophy, SBMA), and type 1 spinocerebellar ataxia (SCA-1) have been found to share a common genetic defect: an unstable region of repeated CAG trinucleotides…”

This morning I read a BBC News report about a potential breakthrough in the treatment and possible cure of Huntington’s Disease. This appears to be another positive step forward in search of an eventual treatment or cure for Kennedy’s Disease.

Huntington’s breakthrough may stop disease

James Gallagher, Health and science correspondent, reports: “…The unstoppable death of brain cells in Huntington's leaves patients in permanent decline, affecting their movement, behaviour, memory and ability to think clearly.

  • Huntington's generally affects people in their prime - in their 30s and 40s
  • Patients die around 10 to 20 years after symptoms start
  • About 8,500 people in the UK have Huntington's and a further 25,000 will develop it when they are older Huntington's is caused by an error in a section of DNA called the huntingtin gene.
  • Normally this contains the instructions for making a protein, called huntingtin, which is vital for brain development. But a genetic error corrupts the protein and turns it into a killer of brain cells.

The treatment is designed to silence the gene…”

“…On the trial, 46 patients had the drug injected into the fluid that bathes the brain and spinal cord. The procedure was carried out at the Leonard Wolfson Experimental Neurology Centre at the National Hospital for Neurology and Neurosurgery in London. Doctors did not know what would happen. One fear was the injections could have caused fatal meningitis. But the first in-human trial showed the drug was safe, well tolerated by patients and crucially reduced the levels of huntingtin in the brain…”

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